Signs and tests

A health care provider can usually diagnose this condition during a physical exam. Consulting with a genetics specialist can rule out other problems linked to this syndrome.

Treatment

Infants with this condition should NOT be put on their back, to prevent the tongue from falling back into the airway.

In moderate cases, the patient will need to have a tube placed through the nose and into the airways to avoid airway blockage. In severe cases, surgery is needed to prevent a blockage in the upper airway. Some patients need surgery to make a hole in the windpipe (tracheostomy).

Feeding must be done very carefully to avoid choking and breathing liquids into the airways. The child may need to be fed through a tube sometimes to prevent choking.

Support Groups

Expectations (prognosis)

Choking and feeding problems may go away on their own over the first few years as the lower jaw grows to a more normal size. There is a significant risk of problems if the airways are not protected against blockage.

Complications

Breathing difficulties, especially when the child sleeps

Choking episodes

Congestive heart failure

Death

Feeding difficulties

Low blood oxygen and brain damage (due to difficulty breathing)

Pulmonary hypertension

Calling your health care provider

This condition is often seen at birth.

Call your health care provider if your child has choking episodes or breathing problems. A blockage of the airways may cause a high-pitched crowing noise when the child breathes in. It can also lead to blueness of the skin (cyanosis).

Also call if your child has other breathing problems.

Prevention

There is no known prevention. Treatment may reduce the episodes of breathing problems and choking.